Dervla Connaughton

Dervla ConnaughtonMatthew WeirKyla NaylorAmit Garg

Researchers in Ontario, Canada, found that men who donated a kidney through laparoscopic surgery had a significantly higher risk of requiring scrotal surgery later in life compared to men who did not donate. Over a 20-year period, nearly 14 percent of donors underwent surgery to treat fluid collection in the scrotum, most commonly a procedure called a hydrocelectomy. These findings highlight a specific long-term surgical risk for male living kidney donors that may occur several years after the initial donation.

Dervla Connaughton

An expert group in Ontario developed a standardized framework and expanded gene panels to improve the diagnosis of inherited kidney diseases, which account for a significant portion of chronic kidney disease cases. The initiative established clear eligibility criteria and evidence-based testing guidelines to ensure patients across the province have equitable access to genetic services. This framework aims to integrate genetic testing into routine clinical care to facilitate earlier diagnosis and more personalized treatment strategies for patients with kidney disease.

Dervla Connaughton

This review examines various healthcare models designed to integrate genetic testing into standard kidney care, such as specialized kidney genetics clinics and multidisciplinary variant review boards. The authors identify key barriers to the widespread adoption of these tests and propose strategies like virtual consultations and mainstreaming genetic testing directly into nephrology clinics to improve patient access. By establishing practical and scalable frameworks, these models aim to make genetic diagnosis a routine part of managing kidney disease to ensure more equitable and precise care.

Dervla Connaughton

This report describes a newborn diagnosed with a rare genetic condition called pseudohypoaldosteronism type 1B, which causes the body to be resistant to the hormone aldosterone. The infant experienced severe electrolyte imbalances, including dangerously high potassium levels and salt wasting, which were linked to a newly discovered mutation in a gene responsible for sodium transport. Managing the condition was challenging due to the complex diagnostic process and the difficulty of maintaining stable salt and potassium levels in the blood.

Louise MoistDervla ConnaughtonMatthew WeirSusan HuangAndrew HouseLakshman GunaratnamArsh JainAmit GargAndrea CowanPavel RoshanovPeter Blake

In a study of 125 adults aged 50 and older with chronic kidney disease, researchers found that genetic testing identified a specific cause of disease in 38% of patients. The highest success rate for diagnosis occurred in those aged 50 to 54, with various forms of glomerular disease being the most common findings. These genetic results led to changes in medical treatment and clinical management, suggesting that age alone should not be a barrier to accessing genetic testing for kidney disease.

Dervla Connaughton

By performing genetic sequencing on over 200 families where children were born with kidney and urinary tract malformations, researchers identified potential new disease-causing genes in nearly 20% of the cases. The study focused on identifying new mutations that appear in a child but are not present in either parent, highlighting specific genes like SOX13 and CHD1L as likely contributors to these birth defects. These findings expand the understanding of the genetic causes underlying congenital kidney disease and may improve future diagnostic accuracy for affected families.

Dervla ConnaughtonAmit Garg

Researchers tracked the evaluation process for living kidney donor candidates at a Canadian transplant centre to identify barriers to donation. While the time from initial contact to donation decreased significantly over four years, delays were often caused by waiting for the recipient's referral or the donor's need for weight loss. Monitoring these evaluation steps provides a framework for quality improvement to help more patients receive a transplant before they require dialysis.

Louise MoistDervla ConnaughtonMatthew WeirAndrew HouseLakshman GunaratnamArsh JainAndrea CowanPavel Roshanov

Researchers evaluated the impact of a specialized kidney genetics clinic in Canada by providing genetic testing to 300 patients with chronic kidney disease who met specific referral criteria. The study found that using a standardized testing process identified a genetic cause for kidney disease in one-third of the families, with results typically delivered within three months of assessment. These genetic findings frequently led to changes in clinical management, though the researchers noted a significant delay of over ten years between a patient's initial kidney disease diagnosis and their eventual genetic evaluation.

Dervla ConnaughtonPavel Roshanov

Researchers reviewed 60 studies involving over 10,000 adults with chronic kidney disease and found that genetic testing provided a clear diagnosis for 40% of patients. The likelihood of finding a genetic cause was highest in those with cystic kidney disease or a family history of kidney problems. Importantly, the genetic results led to a change in the original diagnosis for 17% of patients and influenced treatment decisions or family screening in several cases.

Dervla ConnaughtonMatthew WeirSusan HuangAndrew HouseLakshman GunaratnamPavel Roshanov

Researchers analyzed genetic data from patients with chronic kidney disease to investigate why many develop severe hardening of the arteries, known as vascular calcification. They identified specific mutations in the ABCC6 gene in several families, suggesting that inherited genetic factors may directly contribute to this cardiovascular complication. Identifying these genetic causes early could eventually help doctors use targeted therapies to prevent vascular damage and reduce the risk of death in kidney disease patients.

Dervla ConnaughtonMatthew Weir

A woman who donated a kidney was later found to have a genetic mutation for Alport Syndrome that had initially been classified as a finding of uncertain significance. Five years after her donation, a re-evaluation of her genetic data and family history led to the discovery that the mutation was likely disease-causing, explaining her unexpected decline in kidney function. This case highlights the importance of periodically re-examining genetic test results, especially for potential living kidney donors, as scientific understanding of specific mutations evolves over time.

Dervla Connaughton

Researchers used gene expression data from human fetal kidneys to identify which genes are most active during organ development and likely to cause birth defects of the kidney and urinary tract. By comparing this developmental data with genetic sequences from affected families, they identified four promising new candidate genes that may be responsible for these conditions. This approach helps scientists prioritize which genetic variants are most likely to cause disease in children and young adults.

Dervla Connaughton

In this study, researchers used advanced genetic sequencing to analyze 167 Canadian patients suspected of having atypical hemolytic uremic syndrome, a rare condition involving abnormal blood clotting and kidney failure. They found that only a very small percentage of patients had clearly identifiable disease-causing genetic mutations, while many others carried variants of uncertain significance that are difficult to interpret clinically. These findings highlight the complexity of using genetic testing to diagnose this condition and the need for stricter guidance when interpreting genetic results in clinical practice.

Dervla Connaughton

Researchers used exome sequencing to investigate genetic causes of neurogenic bladder, a condition where nerve signaling issues disrupt bladder function and can lead to kidney damage. They identified a rare homozygous variant in the CHRM5 gene in one patient, a gene previously linked to bladder overactivity in animal models. While the gene remains a potential candidate for this condition, initial laboratory tests did not provide enough evidence to confirm that this specific genetic change was the definitive cause.

Dervla Connaughton

Researchers identified that mutations in the ARHGEF6 gene on the X chromosome are a cause of congenital anomalies of the kidneys and urinary tract in humans. By studying kidney cells and animal models, the team demonstrated that these genetic variants disrupt essential cell signaling and movement required for normal kidney development. This discovery adds to the known genetic causes of the most common form of kidney disease in children.

Dervla Connaughton

Researchers surveyed women from families with a rare inherited condition called autosomal dominant tubulointerstitial kidney disease to understand how it affects pregnancy. The study found that while affected women had a higher rate of premature births compared to unaffected family members, they experienced lower rates of high blood pressure during pregnancy than is typically seen in other types of chronic kidney disease. Most pregnancies resulted in good outcomes for both mother and baby, even though the majority of women were unaware of their genetic diagnosis at the time of pregnancy.

Dervla Connaughton

Congenital anomalies of the kidney and urinary tract are a leading cause of kidney failure in children and can also affect adults. This review explores how specific single-gene defects disrupt embryonic development to cause these conditions, noting that approximately 10 to 20 percent of cases have a clear genetic origin. Understanding these gene pathways helps explain the wide variety of urinary tract and kidney problems seen in patients.

Dervla Connaughton

Researchers investigated the genetic causes of congenital anomalies of the kidney and urinary tract by looking for missing or duplicated sections of DNA, known as copy number variations. By adding this analysis to standard genetic sequencing in 170 families, the team increased the rate of successful genetic diagnosis from 13% to 18%. These findings suggest that searching for these specific structural genetic changes can help more families understand the underlying cause of their child's kidney condition.

Dervla Connaughton

This study evaluated the impact of a specialized genetic kidney disease clinic in Ireland that used various genomic sequencing methods to diagnose adults with suspected inherited kidney conditions. Researchers achieved a genetic diagnosis in over half of the participants, which led to the reclassification of diagnoses for some and allowed others to avoid invasive kidney biopsies. The findings demonstrate that integrating genetic testing into clinical care can significantly improve diagnostic accuracy and guide treatment decisions for patients with kidney disease.

Dervla Connaughton

Researchers used whole exome sequencing to investigate whether specific genetic mutations contribute to spina bifida, a common congenital malformation. By analyzing the genetic data of 50 unrelated individuals and comparing them to known mouse models and human syndromes, the team identified 18 potential candidate genes that may be linked to the condition. These findings suggest that some cases of spina bifida may have a monogenic cause, where a mutation in a single gene is responsible for the defect.

Dervla Connaughton

Researchers used advanced gene editing and protein analysis to identify ZMYM2 as a key protein that binds to the transcription factor TBX18, which is essential for the proper development of various organs. Both of these proteins are linked to congenital anomalies of the kidney and urinary tract, and this study found they are present together during the development of the ureter in mice. These findings help explain the molecular machinery required for normal kidney and urinary tract formation during embryonic development.

Dervla Connaughton

Researchers used whole-exome sequencing to analyze the genetic data of 541 families affected by congenital anomalies of the kidneys and urinary tract. By focusing on the Forkhead box family of genes, which are known to be important for organ development, the team identified three new candidate genes—FOXL2, FOXA2, and FOXA3—linked to these conditions. This study demonstrates that focusing on gene families with similar functions can be an effective strategy for discovering the underlying genetic causes of complex kidney and urinary tract malformations.